Robin Sequence: Continuing Heterogeneity in Nomenclature and Diagnosis

The Journal of Craniofacial Surgery
Daan P F van NunenCorstiaan C Breugem

Abstract

Heterogeneity in both nomenclature and diagnostic criteria has hindered the interpretation of research into the congenital condition most widely known as (Pierre) Robin syndrome or sequence. In 2009, the discussion regarding its diagnosis and nosology was reopened to converge on a uniform eponym and standard set of diagnostic criteria. The objective of this study was to assess the impact of this debate. This is a retrospective review of the nomenclature and diagnostic criteria employed in studies about this condition that were indexed in the MEDLINE literature database (PubMed) and published during 2009 to 2016. A total of 440 studies were retrieved of which the majority used the eponyms "Pierre Robin sequence" (62.0%) or "Robin sequence" (23.4%). During the study period, there was a significant shift toward the use of "sequence" in preference over "syndrome." Only 71.4% of studies mentioned their criteria for diagnosis, which remained heterogeneous throughout the study period. Since 2009, the debate has not produced a consensus eponym and standard diagnosis. This is unfortunate given the enduring controversies over the optimal management of a condition associated with a high morbidity and mortality. A renewed effort is needed ...Continue Reading

References

May 1, 1992·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·R J Shprintzen
May 1, 1992·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·A E Sher
Nov 4, 2008·Journal of Plastic, Reconstructive & Aesthetic Surgery : JPRAS·C C Breugem, A B Mink van der Molen
Mar 11, 2009·BMC Medical Research Methodology·Narayan JanaNalini Arora
Oct 29, 2009·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·C C Breugem, D J Courtemanche
Oct 31, 2014·Plastic and Reconstructive Surgery·Melinda A CostaRoberto L Flores
Jan 17, 2015·Frontiers in Surgery·Daan P F van NunenCorstiaan C Breugem

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Citations

Jul 23, 2021·American Journal of Medical Genetics. Part a·Tara L WengerKelly N Evans
Jul 28, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Fabian BlancGuillaume Captier

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